Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
NM_003824.4
p.C105W
c.315T>G
NM_003824.4
p.F25Y
c.74T>A
NM_003824.4
p.C105R
c.313T>C
NM_003824.4
p.R117H
c.350G>A
NM_003824.4
p.S18_L20delFs
c.52_58del7
NM_003824.4
p.R34H
c.101G>A
NM_003824.4
p.K110N
c.330A>C
NM_003824.4
p.K110N
c.330A>T
NM_003824.4
p.S194A
c.580T>G
NM_003824.4
p.E19A
c.56A>C
NM_003824.4
p.C27*
c.81C>A
NM_003824.4
p.Q52_G58del7
c.154_173del21